Congenital Adrenal Hyperplasia (Case Report)
نویسندگان
چکیده
منابع مشابه
Congenital adrenal hyperplasia and enamel hypoplasia: case report.
A female with congenital adrenal hyperplasia and enamel defects involving the permanent maxillary incisors and all canines and premolars received composite veneer splint overlays under general anesthesia. Possible etiological factors involved in the formation of the enamel defects and overall case management is discussed.
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Congenital adrenal hyperplasia (CAH) describes a group of autosomal recessive disorders, each of which involves a deficiency of an enzyme involved in the synthesis of cortisol, aldosterone, or both. Classic CAH is rare, about 1 case per 16,000 population. However CAH with cholestatic jaundice is extremely rare. A 23 days old boy presented with vomiting, persistent jaundice. He was born at term,...
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The 47,XXX karyotype is a rare sex chromosome anomaly. This karyotype is usually not associated with a characteristic physical phenotype. In the presented case, a triple-X girl patient associated with 11beta-hydroxylase deficiency is identified. The case was referred to the Endocrinology Unit at six days of age because of ambiguous genitalia. The karyotype in this case was 47,XXX, an unexpected...
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lipoid congenital adrenal hyperplasia (lipoid cah), a rare disorder of steroid biosynthesis, is the most severe form of cah. in this disorder the synthesis of glucocorticoids, mineralocorticoids and sex steroids is impaired which result in adrenal failure, severe salt wasting crisis and hyperpigmentation in phenotypical female infants irrespective of genetic sex. in this report, we presented a ...
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Lipoid congenital adrenal hyperplasia (lipoid CAH), a rare disorder of steroid biosynthesis, is the most severe form of CAH. In this disorder the synthesis of glucocorticoids, mineralocorticoids and sex steroids is impaired which result in adrenal failure, severe salt wasting crisis and hyperpigmentation in phenotypical female infants irrespective of genetic sex. In this report, we presented a ...
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ژورنال
عنوان ژورنال: Paediatrica Indonesiana
سال: 2019
ISSN: 2338-476X,0030-9311
DOI: 10.14238/pi16.9-10.1976.386-90